Exon | Base | P | Q | Amino acid change | p | q | Found with: | ||
---|---|---|---|---|---|---|---|---|---|
Unaffected | Definite | Others | |||||||
1 | 1-22 G>C | G | C | 0.984 | 0.016 | Y | 7486 C>T R2496X | Y | |
2 | 61-4 del T | 9T | 8T | 0.996 | 0.004 | 1642-2 A>G | |||
2 | 168 C>T | C | T | S56S | 0.959 | 0.041 | Y | 4045 ins T S1373X | Y |
4b | 528 T>A | T | A | D176E | 0.996 | 0.004 | Y | ||
5 | 702 A>G | A | G | L234L | 0.728 | 0.364 | Y | many | Y |
7 | 889-31 del ATTAT | 0.996 | 0.004 | 1885 G>A G629R | |||||
10b | 1393-32 C>T | C | T | 0.707 | 0.403 | Y | many | Y | |
10c | 1528-29 del T | 8T | 7T | 0.694 | 0.320 | Y | many | Y | |
11 | 1642-25 T>C | T | C | 0.973 | 0.027 | Y | 7096 del 6 | Y | |
12a | 1810 T>C | T | C | L604L | 0.993 | 0.007 | 4255 A>G K1419E | ||
16 | 2617 C>T | C | T | R873C | 0.996 | 0.004 | 1-14 to 7 del 21bp | ||
16 | 2531 G>A | G | A | G844G | 0.996 | 0.004 | 1994C>T S665F | ||
17 | 2851-16 T>C | T | C | 0.977 | 0.023 | Y | 3528 del A L1183X | ||
22 | 3867C>T | C | T | F1289F | 0.996 | 0.004 | 1885 G>A G629R | ||
29 | 5546-19 T>A | T | A | 0.598 | 0.471 | Y | many | Y | |
32 | 6084+8 C>G | C | G | 0.996 | 0.004 | 1318 C>T R440X | |||
33 | 6173 C>A | C | A | A2058D | 0.995 | 0.005 | 6181del 8bp D2074X | ||
39 | 7126+37 G>C | G | C | 0.937 | 0.063 | Y | many | Y | |
42 | 7395-29 A>G | A | G | 0.666 | 0.356 | Y | many | Y | |
46 | 8050+20 G>A | G | A | 0.989 | 0.011 | Y |